Orpha Number: 96184
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names | Learn More: HPO ID |
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Bifid uvula | 0000193 | |
|
Cleft roof of mouth
|
0000175 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
| Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ]
|
0002155 |
| Maturity-onset diabetes of the young | 0004904 | |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Percent of people who have these symptoms is not available through HPO | ||
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Frontal bossing | 0002007 | |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ]
|
0003124 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
|
0001382 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Overweight | 0025502 | |
| Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ]
|
0001622 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
| Relative macrocephaly |
Relatively large head
|
0004482 |
|
Abnormal curving of the spine
|
0002650 | |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Short philtrum | 0000322 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
| Small hand |
Disproportionately small hands
|
0200055 |
| Sporadic |
No previous family history
|
0003745 |
| Truncal obesity | 0001956 | |
| Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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